ArticleEMBO molecular medicine2018
PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.
Article in EMBO molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
- Molecular Drivers of Developmental Arrest in the Human Preimplantation Embryo: A Systematic Review and Critical Analysis Leading to Mapping Future Research.International journal of molecular sciences · 2021Pooled it
- Efficient gene disruption with CRISPR-Cas3 in human T cells.NAR cancer · 2026Article
- CCDC174 deficiency impaired human fertility by affecting the alternative splicing of maternal mRNAs.EMBO molecular medicine · 2026Article
- Loss of DLGAP5 impairs human and mouse oocyte maturation via disrupting the PI3K-AKT signaling axis.Journal of ovarian research · 2026Article
- Identification of two novel PATL2 variants and transcriptome sequencing reveals their role in oocyte maturation.Journal of ovarian research · 2026Article
- Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.Human genetics · 2026Article
- Dynamic Transcriptomic Profiling of the HPG Axis Reveals Stage-Specific Regulatory Networks Underlying Natural Sex Change in Orange-Spotted Grouper (Epinephelus coioides).Marine biotechnology (New York, N.Y.) · 2026Article
- ZAR1 pathogenic variants disrupt maternal mRNA storage and cause oocyte maturation defects in humans.Cellular and molecular life sciences : CMLS · 2025Article
- Integrating whole-genome resequencing data reveals adaptive selection signatures in sheep populations under extreme environments.BMC genomics · 2025Article
- Decoding protein phosphorylation during oocyte meiotic divisions using phosphoproteomics.eLife · 2025Article
- Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Journal of assisted reproduction and genetics · 2025Article
- Infertile females with biallelic mutations in APC/C genes are characterized by oocyte or early embryo defects.Journal of assisted reproduction and genetics · 2025Article
- Evaluation of Risk Factors and a Gene Panel as a Tool for Unexplained Infertility Diagnosis by Next-Generation Sequencing.Medicina (Kaunas, Lithuania) · 2025Review
- Identification of aFrontiers in genetics · 2025Article
- Novel Genetic Variants inInternational journal of medical sciences · 2025Article
- PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation.Cell & bioscience · 2024Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Identification of a novel mutation inBiochemistry and biophysics reports · 2024Article
- A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.Journal of assisted reproduction and genetics · 2024Article
- Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Journal of assisted reproduction and genetics · 2024Article
Corrections and comments
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Authors and funding
27 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic causes of oocyte meiotic deficiency (OMD), a form of primary infertility characterised by the production of immature oocytes, remain largely unexplored. Using whole exome sequencing, we found that 26% of a cohort of 23 subjects with OMD harboured the same homozygous nonsense pathogenic mutation in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.